Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.

doi:10.1007/s00417-022-05955-5

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Article

Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Jul 2023

Gopinath Chitra, Rompicherla Ramya, Mathias Grace Priyaranjini, Patil Rajeshwari, Poornachandra B, Vinekar Anand, Mochi Thirumalesh B, Braganza Sherine, Shetty K Bhujang, Kumaramanickavel Govindasamy, Ghosh Anuprita

Abstract excerpt

PURPOSE: Recent advances in sequencing technologies have enabled radical and rapid progress in the genetic diagnosis of inherited retinal disorders (IRDs). Although the list of gene variations continues to grow, it lacks the genetic etiology of ethnic groups like South Asians. Differences in racial backgrounds and consanguinity add to genetic heterogeneity and phenotypic overlaps. METHODS: This retrospective...

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PMID: 36648511
DOI: 10.1007/s00417-022-05955-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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